UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115663966_115663987del | CA645533777 | VANGL1 | c.510_531del (p.Phe171ThrfsTer?) c.504_525del (p.Phe169ThrfsTer?) | COSMIC |
| 1 | g.115663975C>A | CA420178102 | VANGL1 | c.519C>A (p.Arg173=) c.513C>A (p.Arg171=) | |
| 1 | g.115663975C>G | CA420178103 | VANGL1 | c.519C>G (p.Arg173=) c.513C>G (p.Arg171=) | |
| 1 | g.115663975C>T | CA420178104 | VANGL1 | c.519C>T (p.Arg173=) c.513C>T (p.Arg171=) | |
| 1 | g.115663976A>C | CA341762929 | VANGL1 | c.520A>C (p.Lys174Gln) c.514A>C (p.Lys172Gln) | |
| 1 | g.115663976A>G | CA341762930 | VANGL1 | c.520A>G (p.Lys174Glu) c.514A>G (p.Lys172Glu) | |
| 1 | g.115663976A>T | CA341762931 | VANGL1 | c.520A>T (p.Lys174Ter) c.514A>T (p.Lys172Ter) | |
| 1 | g.115663977A>C | CA341762932 | VANGL1 | c.521A>C (p.Lys174Thr) c.515A>C (p.Lys172Thr) | |
| 1 | g.115663977A>G | CA341762933 | VANGL1 | c.521A>G (p.Lys174Arg) c.515A>G (p.Lys172Arg) | |
| 1 | g.115663977A>T | CA341762934 | VANGL1 | c.521A>T (p.Lys174Met) c.515A>T (p.Lys172Met) | |
| 1 | g.115663978G>A | CA420178105 | VANGL1 | c.522G>A (p.Lys174=) c.516G>A (p.Lys172=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115663978G>C | CA341762935 | VANGL1 | c.522G>C (p.Lys174Asn) c.516G>C (p.Lys172Asn) | |
| 1 | g.115663978G= | CA1190697342 | VANGL1 | c.522G= (p.Lys174=) c.516G= (p.Lys172=) | |
| 1 | g.115663978G>T | CA341762936 | VANGL1 | c.522G>T (p.Lys174Asn) c.516G>T (p.Lys172Asn) | |
| 1 | g.115663979C>A | CA420178106 | VANGL1 | c.523C>A (p.Arg175=) c.517C>A (p.Arg173=) | |
| 1 | g.115663979C= | CA1141876809 | VANGL1 | c.523C= (p.Arg175=) c.517C= (p.Arg173=) | |
| 1 | g.115663979C>G | CA341762937 | VANGL1 | c.523C>G (p.Arg175Gly) c.517C>G (p.Arg173Gly) | |
| 1 | g.115663979C>T | CA235195 | VANGL1 | c.523C>T (p.Arg175Trp) c.517C>T (p.Arg173Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115663980G>A | CA1023257 | VANGL1 | c.524G>A (p.Arg175Gln) c.518G>A (p.Arg173Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115663980G>C | CA341762938 | VANGL1 | c.524G>C (p.Arg175Pro) c.518G>C (p.Arg173Pro) | |
| 1 | g.115663980G= | CA1143483175 | VANGL1 | c.524G= (p.Arg175=) c.518G= (p.Arg173=) | |
| 1 | g.115663980G>T | CA1023258 | VANGL1 | c.524G>T (p.Arg175Leu) c.518G>T (p.Arg173Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115663981G>A | CA420178107 | VANGL1 | c.525G>A (p.Arg175=) c.519G>A (p.Arg173=) | gnomAD v4 |
| 1 | g.115663981G>C | CA420178108 | VANGL1 | c.525G>C (p.Arg175=) c.519G>C (p.Arg173=) | |
| 1 | g.115663981G>T | CA420178109 | VANGL1 | c.525G>T (p.Arg175=) c.519G>T (p.Arg173=) | |
| 1 | g.115663982A>C | CA420178110 | VANGL1 | c.526A>C (p.Arg176=) c.520A>C (p.Arg174=) | |
| 1 | g.115663982A>G | CA341762939 | VANGL1 | c.526A>G (p.Arg176Gly) c.520A>G (p.Arg174Gly) | |
| 1 | g.115663982A>T | CA341762940 | VANGL1 | c.526A>T (p.Arg176Ter) c.520A>T (p.Arg174Ter) | |
| 1 | g.115663983G>A | CA341762941 | VANGL1 | c.527G>A (p.Arg176Lys) c.521G>A (p.Arg174Lys) | gnomAD v4 |
| 1 | g.115663983G>C | CA341762942 | VANGL1 | c.527G>C (p.Arg176Thr) c.521G>C (p.Arg174Thr) | |
| 1 | g.115663983G>T | CA341762943 | VANGL1 | c.527G>T (p.Arg176Ile) c.521G>T (p.Arg174Ile) | |
| 1 | g.115663984A>C | CA341762945 | VANGL1 | c.528A>C (p.Arg176Ser) c.522A>C (p.Arg174Ser) | |
| 1 | g.115663984A>G | CA420178111 | VANGL1 | c.528A>G (p.Arg176=) c.522A>G (p.Arg174=) | |
| 1 | g.115663984A>T | CA341762944 | VANGL1 | c.528A>T (p.Arg176Ser) c.522A>T (p.Arg174Ser) | |
| 1 | g.115663985G>A | CA341762946 | VANGL1 | c.529G>A (p.Ala177Thr) c.523G>A (p.Ala175Thr) | |
| 1 | g.115663985G>C | CA341762947 | VANGL1 | c.529G>C (p.Ala177Pro) c.523G>C (p.Ala175Pro) | COSMIC |
| 1 | g.115663985G>T | CA341762948 | VANGL1 | c.529G>T (p.Ala177Ser) c.523G>T (p.Ala175Ser) | |
| 1 | g.115663986C>A | CA341762949 | VANGL1 | c.530C>A (p.Ala177Asp) c.524C>A (p.Ala175Asp) | |
| 1 | g.115663986C>G | CA341762950 | VANGL1 | c.530C>G (p.Ala177Gly) c.524C>G (p.Ala175Gly) | gnomAD v4 |
| 1 | g.115663986C>T | CA341762951 | VANGL1 | c.530C>T (p.Ala177Val) c.524C>T (p.Ala175Val) | |
| 1 | g.115663987T>A | CA420178113 | VANGL1 | c.531T>A (p.Ala177=) c.525T>A (p.Ala175=) | |
| 1 | g.115663987T>C | CA420178114 | VANGL1 | c.531T>C (p.Ala177=) c.525T>C (p.Ala175=) | |
| 1 | g.115663987T>G | CA420178112 | VANGL1 | c.531T>G (p.Ala177=) c.525T>G (p.Ala175=) | |
| 1 | g.115663988G>A | CA341762952 | VANGL1 | c.532G>A (p.Asp178Asn) c.526G>A (p.Asp176Asn) | gnomAD v4 |
| 1 | g.115663988G>C | CA341762954 | VANGL1 | c.532G>C (p.Asp178His) c.526G>C (p.Asp176His) | |
| 1 | g.115663988G>T | CA341762953 | VANGL1 | c.532G>T (p.Asp178Tyr) c.526G>T (p.Asp176Tyr) | |
| 1 | g.115663989A= | CA1149042099 | VANGL1 | c.533A= (p.Asp178=) c.527A= (p.Asp176=) | |
| 1 | g.115663989A>C | CA341762955 | VANGL1 | c.533A>C (p.Asp178Ala) c.527A>C (p.Asp176Ala) | |
| 1 | g.115663989A>G | CA1023259 | VANGL1 | c.533A>G (p.Asp178Gly) c.527A>G (p.Asp176Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115663989A>T | CA341762956 | VANGL1 | c.533A>T (p.Asp178Val) c.527A>T (p.Asp176Val) | |
| 1 | g.115663990C>A | CA341762957 | VANGL1 | c.534C>A (p.Asp178Glu) c.528C>A (p.Asp176Glu) | |
| 1 | g.115663990C>G | CA341762958 | VANGL1 | c.534C>G (p.Asp178Glu) c.528C>G (p.Asp176Glu) | |
| 1 | g.115663990C>T | CA420178115 | VANGL1 | c.534C>T (p.Asp178=) c.528C>T (p.Asp176=) | |
| 1 | g.115663991A= | CA1190697343 | VANGL1 | c.535A= (p.Met179=) c.529A= (p.Met177=) | |
| 1 | g.115663991A>C | CA341762959 | VANGL1 | c.535A>C (p.Met179Leu) c.529A>C (p.Met177Leu) | |
| 1 | g.115663991A>G | CA341762960 | VANGL1 | c.535A>G (p.Met179Val) c.529A>G (p.Met177Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115663991A>T | CA341762961 | VANGL1 | c.535A>T (p.Met179Leu) c.529A>T (p.Met177Leu) | |
| 1 | g.115663992T>A | CA341762962 | VANGL1 | c.536T>A (p.Met179Lys) c.530T>A (p.Met177Lys) | |
| 1 | g.115663992T>C | CA341762963 | VANGL1 | c.536T>C (p.Met179Thr) c.530T>C (p.Met177Thr) | dbSNP |
| 1 | g.115663992T>G | CA341762964 | VANGL1 | c.536T>G (p.Met179Arg) c.530T>G (p.Met177Arg) | |
| 1 | g.115663992T= | CA1190697344 | VANGL1 | c.536T= (p.Met179=) c.530T= (p.Met177=) | |
| 1 | g.115663993G>A | CA1023260 | VANGL1 | c.537G>A (p.Met179Ile) c.531G>A (p.Met177Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115663993G>C | CA341762966 | VANGL1 | c.537G>C (p.Met179Ile) c.531G>C (p.Met177Ile) | |
| 1 | g.115663993G= | CA1143485981 | VANGL1 | c.537G= (p.Met179=) c.531G= (p.Met177=) | |
| 1 | g.115663993G>T | CA341762965 | VANGL1 | c.537G>T (p.Met179Ile) c.531G>T (p.Met177Ile) | |
| 1 | g.115663994C>A | CA341762967 | VANGL1 | c.538C>A (p.Pro180Thr) c.532C>A (p.Pro178Thr) | |
| 1 | g.115663994C>G | CA341762969 | VANGL1 | c.538C>G (p.Pro180Ala) c.532C>G (p.Pro178Ala) | |
| 1 | g.115663994C>T | CA341762968 | VANGL1 | c.538C>T (p.Pro180Ser) c.532C>T (p.Pro178Ser) | |
| 1 | g.115663995C>A | CA341762970 | VANGL1 | c.539C>A (p.Pro180Gln) c.533C>A (p.Pro178Gln) | |
| 1 | g.115663995C= | CA1190697345 | VANGL1 | c.539C= (p.Pro180=) c.533C= (p.Pro178=) | |
| 1 | g.115663995C>G | CA341762971 | VANGL1 | c.539C>G (p.Pro180Arg) c.533C>G (p.Pro178Arg) | |
| 1 | g.115663995C>T | CA341762972 | VANGL1 | c.539C>T (p.Pro180Leu) c.533C>T (p.Pro178Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115663996A= | CA1190697346 | VANGL1 | c.540A= (p.Pro180=) c.534A= (p.Pro178=) | |
| 1 | g.115663996A>C | CA420178116 | VANGL1 | c.540A>C (p.Pro180=) c.534A>C (p.Pro178=) | |
| 1 | g.115663996A>G | CA420178117 | VANGL1 | c.540A>G (p.Pro180=) c.534A>G (p.Pro178=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115663996A>T | CA420178118 | VANGL1 | c.540A>T (p.Pro180=) c.534A>T (p.Pro178=) | |
| 1 | g.115663997C>A | CA420178119 | VANGL1 | c.541C>A (p.Arg181=) c.535C>A (p.Arg179=) | |
| 1 | g.115663997C= | CA1190697347 | VANGL1 | c.541C= (p.Arg181=) c.535C= (p.Arg179=) | |
| 1 | g.115663997C>G | CA341762973 | VANGL1 | c.541C>G (p.Arg181Gly) c.535C>G (p.Arg179Gly) | |
| 1 | g.115663997C>T | CA1023261 | VANGL1 | c.541C>T (p.Arg181Trp) c.535C>T (p.Arg179Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115663998G>A | CA346814 | VANGL1 | c.542G>A (p.Arg181Gln) c.536G>A (p.Arg179Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115663998G>C | CA341762974 | VANGL1 | c.542G>C (p.Arg181Pro) c.536G>C (p.Arg179Pro) | COSMIC |
| 1 | g.115663998G= | CA1190697348 | VANGL1 | c.542G= (p.Arg181=) c.536G= (p.Arg179=) | |
| 1 | g.115663998G>T | CA341762975 | VANGL1 | c.542G>T (p.Arg181Leu) c.536G>T (p.Arg179Leu) | |
| 1 | g.115663999G>A | CA420178120 | VANGL1 | c.543G>A (p.Arg181=) c.537G>A (p.Arg179=) | |
| 1 | g.115663999G>C | CA420178122 | VANGL1 | c.543G>C (p.Arg181=) c.537G>C (p.Arg179=) | |
| 1 | g.115663999G>T | CA420178121 | VANGL1 | c.543G>T (p.Arg181=) c.537G>T (p.Arg179=) | |
| 1 | g.115663999_115664000insAGATAAAGA | CA2551967890 | VANGL1 | c.543_544insAGATAAAGA c.537_538insAGATAAAGA | |
| 1 | g.115664000G>A | CA341762976 | VANGL1 | c.544G>A (p.Val182Met) c.538G>A (p.Val180Met) | dbSNP gnomAD v4 |
| 1 | g.115664000G>C | CA341762977 | VANGL1 | c.544G>C (p.Val182Leu) c.538G>C (p.Val180Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115664000G= | CA1190697349 | VANGL1 | c.544G= (p.Val182=) c.538G= (p.Val180=) | |
| 1 | g.115664000G>T | CA341762978 | VANGL1 | c.544G>T (p.Val182Leu) c.538G>T (p.Val180Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664000_115664004delinsGTGTT | CA1190697350 | VANGL1 | c.544_548delinsGTGTT (p.Val182=) c.538_542delinsGTGTT (p.Val180=) | |
| 1 | g.115664001T>A | CA341762981 | VANGL1 | c.545T>A (p.Val182Glu) c.539T>A (p.Val180Glu) | |
| 1 | g.115664001T>C | CA341762980 | VANGL1 | c.545T>C (p.Val182Ala) c.539T>C (p.Val180Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115664001T>G | CA341762979 | VANGL1 | c.545T>G (p.Val182Gly) c.539T>G (p.Val180Gly) | dbSNP |
| 1 | g.115664001T= | CA1190697351 | VANGL1 | c.545T= (p.Val182=) c.539T= (p.Val180=) | |
| 1 | g.115664004_115664007del | CA885890469 | VANGL1 | c.548_551del (p.Phe183CysfsTer?) c.542_545del (p.Phe181CysfsTer?) | dbSNP |
| 1 | g.115664002G>A | CA1023262 | VANGL1 | c.546G>A (p.Val182=) c.540G>A (p.Val180=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664002G>C | CA420178123 | VANGL1 | c.546G>C (p.Val182=) c.540G>C (p.Val180=) | |
| 1 | g.115664002G= | CA1141908549 | VANGL1 | c.546G= (p.Val182=) c.540G= (p.Val180=) | |
| 1 | g.115664002G>T | CA420178124 | VANGL1 | c.546G>T (p.Val182=) c.540G>T (p.Val180=) | |
| 1 | g.115664003T>A | CA341762982 | VANGL1 | c.547T>A (p.Phe183Ile) c.541T>A (p.Phe181Ile) | |
| 1 | g.115664003T>C | CA341762983 | VANGL1 | c.547T>C (p.Phe183Leu) c.541T>C (p.Phe181Leu) | |
| 1 | g.115664003T>G | CA29619596 | VANGL1 | c.547T>G (p.Phe183Val) c.541T>G (p.Phe181Val) | dbSNP gnomAD v4 |
| 1 | g.115664003T= | CA1190697352 | VANGL1 | c.547T= (p.Phe183=) c.541T= (p.Phe181=) | |
| 1 | g.115664005del | CA2647278931 | VANGL1 | c.549del (p.Phe183LeufsTer?) c.543del (p.Phe181LeufsTer?) | gnomAD v4 |
| 1 | g.115664004T>A | CA341762984 | VANGL1 | c.548T>A (p.Phe183Tyr) c.542T>A (p.Phe181Tyr) | gnomAD v4 |
| 1 | g.115664004T>C | CA341762985 | VANGL1 | c.548T>C (p.Phe183Ser) c.542T>C (p.Phe181Ser) | |
| 1 | g.115664004T>G | CA341762986 | VANGL1 | c.548T>G (p.Phe183Cys) c.542T>G (p.Phe181Cys) | |
| 1 | g.115664005T>A | CA341762987 | VANGL1 | c.549T>A (p.Phe183Leu) c.543T>A (p.Phe181Leu) | |
| 1 | g.115664005T>C | CA420178125 | VANGL1 | c.549T>C (p.Phe183=) c.543T>C (p.Phe181=) | |
| 1 | g.115664005T>G | CA341762988 | VANGL1 | c.549T>G (p.Phe183Leu) c.543T>G (p.Phe181Leu) | |
| 1 | g.115664006G>A | CA341762989 | VANGL1 | c.550G>A (p.Val184Met) c.544G>A (p.Val182Met) | gnomAD v4 |
| 1 | g.115664006G>C | CA341762990 | VANGL1 | c.550G>C (p.Val184Leu) c.544G>C (p.Val182Leu) | |
| 1 | g.115664006G= | CA1190697353 | VANGL1 | c.550G= (p.Val184=) c.544G= (p.Val182=) | |
| 1 | g.115664006G>T | CA341762991 | VANGL1 | c.550G>T (p.Val184Leu) c.544G>T (p.Val182Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115664007T>A | CA341762993 | VANGL1 | c.551T>A (p.Val184Glu) c.545T>A (p.Val182Glu) | |
| 1 | g.115664007T>C | CA1023263 | VANGL1 | c.551T>C (p.Val184Ala) c.545T>C (p.Val182Ala) | dbSNP ExAC gnomAD v4 |
| 1 | g.115664007T>G | CA341762992 | VANGL1 | c.551T>G (p.Val184Gly) c.545T>G (p.Val182Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115664007T= | CA1190697354 | VANGL1 | c.551T= (p.Val184=) c.545T= (p.Val182=) | |
| 1 | g.115664008G>A | CA420178128 | VANGL1 | c.552G>A (p.Val184=) c.546G>A (p.Val182=) | gnomAD v4 |
| 1 | g.115664008G>C | CA420178127 | VANGL1 | c.552G>C (p.Val184=) c.546G>C (p.Val182=) | |
| 1 | g.115664008G>T | CA420178126 | VANGL1 | c.552G>T (p.Val184=) c.546G>T (p.Val182=) | COSMIC |
| 1 | g.115664009T>A | CA341762995 | VANGL1 | c.553T>A (p.Phe185Ile) c.547T>A (p.Phe183Ile) | |
| 1 | g.115664009T>C | CA1023264 | VANGL1 | c.553T>C (p.Phe185Leu) c.547T>C (p.Phe183Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664009T>G | CA341762994 | VANGL1 | c.553T>G (p.Phe185Val) c.547T>G (p.Phe183Val) | |
| 1 | g.115664009T= | CA1145684235 | VANGL1 | c.553T= (p.Phe185=) c.547T= (p.Phe183=) | |
| 1 | g.115664010T>A | CA341762996 | VANGL1 | c.554T>A (p.Phe185Tyr) c.548T>A (p.Phe183Tyr) | |
| 1 | g.115664010T>C | CA341762997 | VANGL1 | c.554T>C (p.Phe185Ser) c.548T>C (p.Phe183Ser) | |
| 1 | g.115664010T>G | CA341762998 | VANGL1 | c.554T>G (p.Phe185Cys) c.548T>G (p.Phe183Cys) | |
| 1 | g.115664011T>A | CA341762999 | VANGL1 | c.555T>A (p.Phe185Leu) c.549T>A (p.Phe183Leu) | |
| 1 | g.115664011T>C | CA420178129 | VANGL1 | c.555T>C (p.Phe185=) c.549T>C (p.Phe183=) | |
| 1 | g.115664011T>G | CA341763000 | VANGL1 | c.555T>G (p.Phe185Leu) c.549T>G (p.Phe183Leu) | |
| 1 | g.115664012C>A | CA341763001 | VANGL1 | c.556C>A (p.Arg186Ser) c.550C>A (p.Arg184Ser) | |
| 1 | g.115664012C= | CA1190697355 | VANGL1 | c.556C= (p.Arg186=) c.550C= (p.Arg184=) | |
| 1 | g.115664012C>G | CA341763002 | VANGL1 | c.556C>G (p.Arg186Gly) c.550C>G (p.Arg184Gly) | |
| 1 | g.115664012C>T | CA1023265 | VANGL1 | c.556C>T (p.Arg186Cys) c.550C>T (p.Arg184Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.115664013G>A | CA1023266 | VANGL1 | c.557G>A (p.Arg186His) c.551G>A (p.Arg184His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664013G>C | CA341763003 | VANGL1 | c.557G>C (p.Arg186Pro) c.551G>C (p.Arg184Pro) | gnomAD v4 |
| 1 | g.115664013G= | CA1190697356 | VANGL1 | c.557G= (p.Arg186=) c.551G= (p.Arg184=) | |
| 1 | g.115664013G>T | CA341763004 | VANGL1 | c.557G>T (p.Arg186Leu) c.551G>T (p.Arg184Leu) | dbSNP |
| 1 | g.115664014T>A | CA420178130 | VANGL1 | c.558T>A (p.Arg186=) c.552T>A (p.Arg184=) | |
| 1 | g.115664014T>C | CA420178131 | VANGL1 | c.558T>C (p.Arg186=) c.552T>C (p.Arg184=) | |
| 1 | g.115664014T>G | CA420178132 | VANGL1 | c.558T>G (p.Arg186=) c.552T>G (p.Arg184=) | |
| 1 | g.115664015G>A | CA341763005 | VANGL1 | c.559G>A (p.Ala187Thr) c.553G>A (p.Ala185Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115664015G>C | CA1023267 | VANGL1 | c.559G>C (p.Ala187Pro) c.553G>C (p.Ala185Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664015G= | CA1190697357 | VANGL1 | c.559G= (p.Ala187=) c.553G= (p.Ala185=) | |
| 1 | g.115664015G>T | CA1023268 | VANGL1 | c.559G>T (p.Ala187Ser) c.553G>T (p.Ala185Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115664016C>A | CA341763006 | VANGL1 | c.560C>A (p.Ala187Asp) c.554C>A (p.Ala185Asp) | |
| 1 | g.115664016C>G | CA341763007 | VANGL1 | c.560C>G (p.Ala187Gly) c.554C>G (p.Ala185Gly) | |
| 1 | g.115664016C>T | CA341763008 | VANGL1 | c.560C>T (p.Ala187Val) c.554C>T (p.Ala185Val) | |
| 1 | g.115664017C>A | CA420178133 | VANGL1 | c.561C>A (p.Ala187=) c.555C>A (p.Ala185=) | |
| 1 | g.115664017C= | CA1190697358 | VANGL1 | c.561C= (p.Ala187=) c.555C= (p.Ala185=) | |
| 1 | g.115664017C>G | CA1023269 | VANGL1 | c.561C>G (p.Ala187=) c.555C>G (p.Ala185=) | dbSNP ExAC gnomAD v2 |
| 1 | g.115664017C>T | CA420178134 | VANGL1 | c.561C>T (p.Ala187=) c.555C>T (p.Ala185=) | gnomAD v4 |
| 1 | g.115664018C>A | CA341763009 | VANGL1 | c.562C>A (p.Leu188Ile) c.556C>A (p.Leu186Ile) | |
| 1 | g.115664018C>G | CA341763010 | VANGL1 | c.562C>G (p.Leu188Val) c.556C>G (p.Leu186Val) | |
| 1 | g.115664018C>T | CA341763011 | VANGL1 | c.562C>T (p.Leu188Phe) c.556C>T (p.Leu186Phe) | |
| 1 | g.115664019T>A | CA341763012 | VANGL1 | c.563T>A (p.Leu188His) c.557T>A (p.Leu186His) | |
| 1 | g.115664019T>C | CA341763013 | VANGL1 | c.563T>C (p.Leu188Pro) c.557T>C (p.Leu186Pro) | |
| 1 | g.115664019T>G | CA341763014 | VANGL1 | c.563T>G (p.Leu188Arg) c.557T>G (p.Leu186Arg) | |
| 1 | g.115664020T>A | CA420178135 | VANGL1 | c.564T>A (p.Leu188=) c.558T>A (p.Leu186=) | |
| 1 | g.115664020T>C | CA420178136 | VANGL1 | c.564T>C (p.Leu188=) c.558T>C (p.Leu186=) | |
| 1 | g.115664020T>G | CA420178137 | VANGL1 | c.564T>G (p.Leu188=) c.558T>G (p.Leu186=) | |
| 1 | g.115664021T>A | CA341763015 | VANGL1 | c.565T>A (p.Leu189Met) c.559T>A (p.Leu187Met) | |
| 1 | g.115664021T>C | CA420178138 | VANGL1 | c.565T>C (p.Leu189=) c.559T>C (p.Leu187=) | |
| 1 | g.115664021T>G | CA341763016 | VANGL1 | c.565T>G (p.Leu189Val) c.559T>G (p.Leu187Val) | |
| 1 | g.115664022T>A | CA341763018 | VANGL1 | c.566T>A (p.Leu189Ter) c.560T>A (p.Leu187Ter) | |
| 1 | g.115664022T>C | CA341763019 | VANGL1 | c.566T>C (p.Leu189Ser) c.560T>C (p.Leu187Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115664022T>G | CA341763017 | VANGL1 | c.566T>G (p.Leu189Trp) c.560T>G (p.Leu187Trp) | |
| 1 | g.115664022T= | CA1190697359 | VANGL1 | c.566T= (p.Leu189=) c.560T= (p.Leu187=) | |
| 1 | g.115664023G>A | CA1023270 | VANGL1 | c.567G>A (p.Leu189=) c.561G>A (p.Leu187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115664023G>C | CA341763021 | VANGL1 | c.567G>C (p.Leu189Phe) c.561G>C (p.Leu187Phe) | |
| 1 | g.115664023G= | CA1190697360 | VANGL1 | c.567G= (p.Leu189=) c.561G= (p.Leu187=) | |
| 1 | g.115664023G>T | CA341763020 | VANGL1 | c.567G>T (p.Leu189Phe) c.561G>T (p.Leu187Phe) | dbSNP |
| 1 | g.115664024T>A | CA341763022 | VANGL1 | c.568T>A (p.Leu190Met) c.562T>A (p.Leu188Met) | |
| 1 | g.115664024T>C | CA420178139 | VANGL1 | c.568T>C (p.Leu190=) c.562T>C (p.Leu188=) | |
| 1 | g.115664024T>G | CA341763023 | VANGL1 | c.568T>G (p.Leu190Val) c.562T>G (p.Leu188Val) | |
| 1 | g.115664025T>A | CA341763024 | VANGL1 | c.569T>A (p.Leu190Ter) c.563T>A (p.Leu188Ter) | |
| 1 | g.115664025T>C | CA341763025 | VANGL1 | c.569T>C (p.Leu190Ser) c.563T>C (p.Leu188Ser) | |
| 1 | g.115664025T>G | CA341763026 | VANGL1 | c.569T>G (p.Leu190Trp) c.563T>G (p.Leu188Trp) | |
| 1 | g.115664026G>A | CA420178140 | VANGL1 | c.570G>A (p.Leu190=) c.564G>A (p.Leu188=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115664026G>C | CA341763027 | VANGL1 | c.570G>C (p.Leu190Phe) c.564G>C (p.Leu188Phe) | |
| 1 | g.115664026G= | CA1190697361 | VANGL1 | c.570G= (p.Leu190=) c.564G= (p.Leu188=) | |
| 1 | g.115664026G>T | CA341763028 | VANGL1 | c.570G>T (p.Leu190Phe) c.564G>T (p.Leu188Phe) | gnomAD v4 |
| 1 | g.115664027G>A | CA341763029 | VANGL1 | c.571G>A (p.Val191Ile) c.565G>A (p.Val189Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115664027G>C | CA341763030 | VANGL1 | c.571G>C (p.Val191Leu) c.565G>C (p.Val189Leu) | |
| 1 | g.115664027G= | CA1190697362 | VANGL1 | c.571G= (p.Val191=) c.565G= (p.Val189=) | |
| 1 | g.115664027G>T | CA341763031 | VANGL1 | c.571G>T (p.Val191Phe) c.565G>T (p.Val189Phe) | |
| 1 | g.115664028T>A | CA341763032 | VANGL1 | c.572T>A (p.Val191Asp) c.566T>A (p.Val189Asp) | |
| 1 | g.115664028T>C | CA1023271 | VANGL1 | c.572T>C (p.Val191Ala) c.566T>C (p.Val189Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664028T>G | CA341763033 | VANGL1 | c.572T>G (p.Val191Gly) c.566T>G (p.Val189Gly) | |
| 1 | g.115664028T= | CA1190697363 | VANGL1 | c.572T= (p.Val191=) c.566T= (p.Val189=) | |
| 1 | g.115664029C>A | CA420178141 | VANGL1 | c.573C>A (p.Val191=) c.567C>A (p.Val189=) | |
| 1 | g.115664029C>G | CA420178143 | VANGL1 | c.573C>G (p.Val191=) c.567C>G (p.Val189=) | |
| 1 | g.115664029C>T | CA420178142 | VANGL1 | c.573C>T (p.Val191=) c.567C>T (p.Val189=) | |
| 1 | g.115664030C>A | CA341763034 | VANGL1 | c.574C>A (p.Leu192Ile) c.568C>A (p.Leu190Ile) | |
| 1 | g.115664030C>G | CA341763036 | VANGL1 | c.574C>G (p.Leu192Val) c.568C>G (p.Leu190Val) | |
| 1 | g.115664030C>T | CA341763035 | VANGL1 | c.574C>T (p.Leu192Phe) c.568C>T (p.Leu190Phe) | gnomAD v4 |
| 1 | g.115664031T>A | CA341763037 | VANGL1 | c.575T>A (p.Leu192His) c.569T>A (p.Leu190His) | |
| 1 | g.115664031T>C | CA1023272 | VANGL1 | c.575T>C (p.Leu192Pro) c.569T>C (p.Leu190Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664031T>G | CA341763038 | VANGL1 | c.575T>G (p.Leu192Arg) c.569T>G (p.Leu190Arg) | |
| 1 | g.115664031T= | CA1146829843 | VANGL1 | c.575T= (p.Leu192=) c.569T= (p.Leu190=) | |
| 1 | g.115664032C>A | CA420178144 | VANGL1 | c.576C>A (p.Leu192=) c.570C>A (p.Leu190=) | |
| 1 | g.115664032C= | CA1142099182 | VANGL1 | c.576C= (p.Leu192=) c.570C= (p.Leu190=) | |
| 1 | g.115664032C>G | CA420178145 | VANGL1 | c.576C>G (p.Leu192=) c.570C>G (p.Leu190=) | |
| 1 | g.115664032C>T | CA1023273 | VANGL1 | c.576C>T (p.Leu192=) c.570C>T (p.Leu190=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664033A>C | CA341763039 | VANGL1 | c.577A>C (p.Ile193Leu) c.571A>C (p.Ile191Leu) | |
| 1 | g.115664033A>G | CA341763040 | VANGL1 | c.577A>G (p.Ile193Val) c.571A>G (p.Ile191Val) | gnomAD v4 |
| 1 | g.115664033A>T | CA341763041 | VANGL1 | c.577A>T (p.Ile193Phe) c.571A>T (p.Ile191Phe) | |
| 1 | g.115664034T>A | CA341763042 | VANGL1 | c.578T>A (p.Ile193Asn) c.572T>A (p.Ile191Asn) | |
| 1 | g.115664034T>C | CA341763043 | VANGL1 | c.578T>C (p.Ile193Thr) c.572T>C (p.Ile191Thr) | |
| 1 | g.115664034T>G | CA341763044 | VANGL1 | c.578T>G (p.Ile193Ser) c.572T>G (p.Ile191Ser) | |
| 1 | g.115664035C>A | CA420178146 | VANGL1 | c.579C>A (p.Ile193=) c.573C>A (p.Ile191=) | |
| 1 | g.115664035C>G | CA341763045 | VANGL1 | c.579C>G (p.Ile193Met) c.573C>G (p.Ile191Met) | |
| 1 | g.115664035C>T | CA420178147 | VANGL1 | c.579C>T (p.Ile193=) c.573C>T (p.Ile191=) | |
| 1 | g.115664036T>A | CA341763048 | VANGL1 | c.580T>A (p.Phe194Ile) c.574T>A (p.Phe192Ile) | |
| 1 | g.115664036T>C | CA341763046 | VANGL1 | c.580T>C (p.Phe194Leu) c.574T>C (p.Phe192Leu) | gnomAD v4 |
| 1 | g.115664036T>G | CA341763047 | VANGL1 | c.580T>G (p.Phe194Val) c.574T>G (p.Phe192Val) | |
| 1 | g.115664037T>A | CA341763049 | VANGL1 | c.581T>A (p.Phe194Tyr) c.575T>A (p.Phe192Tyr) | |
| 1 | g.115664037T>C | CA341763050 | VANGL1 | c.581T>C (p.Phe194Ser) c.575T>C (p.Phe192Ser) | |
| 1 | g.115664037T>G | CA341763051 | VANGL1 | c.581T>G (p.Phe194Cys) c.575T>G (p.Phe192Cys) | |
| 1 | g.115664038T>A | CA341763052 | VANGL1 | c.582T>A (p.Phe194Leu) c.576T>A (p.Phe192Leu) | |
| 1 | g.115664038T>C | CA420178148 | VANGL1 | c.582T>C (p.Phe194=) c.576T>C (p.Phe192=) | |
| 1 | g.115664038T>G | CA341763053 | VANGL1 | c.582T>G (p.Phe194Leu) c.576T>G (p.Phe192Leu) | |
| 1 | g.115664039C>A | CA341763054 | VANGL1 | c.583C>A (p.Leu195Ile) c.577C>A (p.Leu193Ile) | |
| 1 | g.115664039C>G | CA341763055 | VANGL1 | c.583C>G (p.Leu195Val) c.577C>G (p.Leu193Val) | |
| 1 | g.115664039C>T | CA341763056 | VANGL1 | c.583C>T (p.Leu195Phe) c.577C>T (p.Leu193Phe) | |
| 1 | g.115664040T>A | CA341763057 | VANGL1 | c.584T>A (p.Leu195His) c.578T>A (p.Leu193His) | |
| 1 | g.115664040T>C | CA1023274 | VANGL1 | c.584T>C (p.Leu195Pro) c.578T>C (p.Leu193Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115664040T>G | CA341763058 | VANGL1 | c.584T>G (p.Leu195Arg) c.578T>G (p.Leu193Arg) | |
| 1 | g.115664040T= | CA1190697364 | VANGL1 | c.584T= (p.Leu195=) c.578T= (p.Leu193=) | |
| 1 | g.115664041C>A | CA420178149 | VANGL1 | c.585C>A (p.Leu195=) c.579C>A (p.Leu193=) | |
| 1 | g.115664041C>G | CA420178150 | VANGL1 | c.585C>G (p.Leu195=) c.579C>G (p.Leu193=) | gnomAD v4 |
| 1 | g.115664041C>T | CA420178151 | VANGL1 | c.585C>T (p.Leu195=) c.579C>T (p.Leu193=) | gnomAD v4 |
| 1 | g.115664042T>A | CA341763059 | VANGL1 | c.586T>A (p.Phe196Ile) c.580T>A (p.Phe194Ile) | |
| 1 | g.115664042T>C | CA341763061 | VANGL1 | c.586T>C (p.Phe196Leu) c.580T>C (p.Phe194Leu) | |
| 1 | g.115664042T>G | CA341763060 | VANGL1 | c.586T>G (p.Phe196Val) c.580T>G (p.Phe194Val) | |
| 1 | g.115664043T>A | CA341763062 | VANGL1 | c.587T>A (p.Phe196Tyr) c.581T>A (p.Phe194Tyr) | |
| 1 | g.115664043T>C | CA341763063 | VANGL1 | c.587T>C (p.Phe196Ser) c.581T>C (p.Phe194Ser) | |
| 1 | g.115664043T>G | CA341763064 | VANGL1 | c.587T>G (p.Phe196Cys) c.581T>G (p.Phe194Cys) | gnomAD v4 |
| 1 | g.115664044T>A | CA341763065 | VANGL1 | c.588T>A (p.Phe196Leu) c.582T>A (p.Phe194Leu) | |
| 1 | g.115664044T>C | CA420178152 | VANGL1 | c.588T>C (p.Phe196=) c.582T>C (p.Phe194=) | |
| 1 | g.115664044T>G | CA341763066 | VANGL1 | c.588T>G (p.Phe196Leu) c.582T>G (p.Phe194Leu) | |
| 1 | g.115664045G>A | CA341763067 | VANGL1 | c.589G>A (p.Val197Met) c.583G>A (p.Val195Met) | |
| 1 | g.115664045G>C | CA341763068 | VANGL1 | c.589G>C (p.Val197Leu) c.583G>C (p.Val195Leu) | |
| 1 | g.115664045G>T | CA341763069 | VANGL1 | c.589G>T (p.Val197Leu) c.583G>T (p.Val195Leu) | |
| 1 | g.115664046T>A | CA341763070 | VANGL1 | c.590T>A (p.Val197Glu) c.584T>A (p.Val195Glu) | |
| 1 | g.115664046T>C | CA341763071 | VANGL1 | c.590T>C (p.Val197Ala) c.584T>C (p.Val195Ala) | |
| 1 | g.115664046T>G | CA29619685 | VANGL1 | c.590T>G (p.Val197Gly) c.584T>G (p.Val195Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664046T= | CA1190697365 | VANGL1 | c.590T= (p.Val197=) c.584T= (p.Val195=) | |
| 1 | g.115664047G>A | CA420178153 | VANGL1 | c.591G>A (p.Val197=) c.585G>A (p.Val195=) | |
| 1 | g.115664047G>C | CA420178154 | VANGL1 | c.591G>C (p.Val197=) c.585G>C (p.Val195=) | |
| 1 | g.115664047G>T | CA420178155 | VANGL1 | c.591G>T (p.Val197=) c.585G>T (p.Val195=) | |
| 1 | g.115664048G>A | CA341763073 | VANGL1 | c.592G>A (p.Val198Ile) c.586G>A (p.Val196Ile) | gnomAD v4 |
| 1 | g.115664048G>C | CA341763074 | VANGL1 | c.592G>C (p.Val198Leu) c.586G>C (p.Val196Leu) | |
| 1 | g.115664048G>T | CA341763072 | VANGL1 | c.592G>T (p.Val198Phe) c.586G>T (p.Val196Phe) | |
| 1 | g.115664049T>A | CA341763076 | VANGL1 | c.593T>A (p.Val198Asp) c.587T>A (p.Val196Asp) | |
| 1 | g.115664049T>C | CA341763075 | VANGL1 | c.593T>C (p.Val198Ala) c.587T>C (p.Val196Ala) | gnomAD v4 |
| 1 | g.115664049T>G | CA341763077 | VANGL1 | c.593T>G (p.Val198Gly) c.587T>G (p.Val196Gly) | |
| 1 | g.115664050T>A | CA420178156 | VANGL1 | c.594T>A (p.Val198=) c.588T>A (p.Val196=) | |
| 1 | g.115664050T>C | CA420178158 | VANGL1 | c.594T>C (p.Val198=) c.588T>C (p.Val196=) | |
| 1 | g.115664050T>G | CA420178157 | VANGL1 | c.594T>G (p.Val198=) c.588T>G (p.Val196=) | |
| 1 | g.115664051T>A | CA341763078 | VANGL1 | c.595T>A (p.Ser199Thr) c.589T>A (p.Ser197Thr) | |
| 1 | g.115664051T>C | CA341763079 | VANGL1 | c.595T>C (p.Ser199Pro) c.589T>C (p.Ser197Pro) | |
| 1 | g.115664051T>G | CA341763080 | VANGL1 | c.595T>G (p.Ser199Ala) c.589T>G (p.Ser197Ala) | |
| 1 | g.115664052C>A | CA341763081 | VANGL1 | c.596C>A (p.Ser199Tyr) c.590C>A (p.Ser197Tyr) | |
| 1 | g.115664052C= | CA1149040121 | VANGL1 | c.596C= (p.Ser199=) c.590C= (p.Ser197=) | |
| 1 | g.115664052C>G | CA341763082 | VANGL1 | c.596C>G (p.Ser199Cys) c.590C>G (p.Ser197Cys) | dbSNP gnomAD v4 |
| 1 | g.115664052C>T | CA1023275 | VANGL1 | c.596C>T (p.Ser199Phe) c.590C>T (p.Ser197Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.115664053C>A | CA420178159 | VANGL1 | c.597C>A (p.Ser199=) c.591C>A (p.Ser197=) | |
| 1 | g.115664053C= | CA1190697366 | VANGL1 | c.597C= (p.Ser199=) c.591C= (p.Ser197=) | |
| 1 | g.115664053C>G | CA420178160 | VANGL1 | c.597C>G (p.Ser199=) c.591C>G (p.Ser197=) | gnomAD v4 |
| 1 | g.115664053C>T | CA420178161 | VANGL1 | c.597C>T (p.Ser199=) c.591C>T (p.Ser197=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664054T>A | CA341763083 | VANGL1 | c.598T>A (p.Tyr200Asn) c.592T>A (p.Tyr198Asn) | |
| 1 | g.115664054T>C | CA341763084 | VANGL1 | c.598T>C (p.Tyr200His) c.592T>C (p.Tyr198His) | |
| 1 | g.115664054T>G | CA341763085 | VANGL1 | c.598T>G (p.Tyr200Asp) c.592T>G (p.Tyr198Asp) | |
| 1 | g.115664055A= | CA1190697368 | VANGL1 | c.599A= (p.Tyr200=) c.593A= (p.Tyr198=) | |
| 1 | g.115664055A>C | CA341763086 | VANGL1 | c.599A>C (p.Tyr200Ser) c.593A>C (p.Tyr198Ser) | |
| 1 | g.115664055A>G | CA341763087 | VANGL1 | c.599A>G (p.Tyr200Cys) c.593A>G (p.Tyr198Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115664055A>T | CA341763088 | VANGL1 | c.599A>T (p.Tyr200Phe) c.593A>T (p.Tyr198Phe) | |
| 1 | g.115664055_115664056delinsAT | CA1190697367 | VANGL1 | c.599_600delinsAT (p.Tyr200=) c.593_594delinsAT (p.Tyr198=) | |
| 1 | g.115664056T>A | CA341763090 | VANGL1 | c.600T>A (p.Tyr200Ter) c.594T>A (p.Tyr198Ter) | |
| 1 | g.115664056T>C | CA420178162 | VANGL1 | c.600T>C (p.Tyr200=) c.594T>C (p.Tyr198=) | gnomAD v4 |
| 1 | g.115664056T>G | CA341763089 | VANGL1 | c.600T>G (p.Tyr200Ter) c.594T>G (p.Tyr198Ter) | |
| 1 | g.115664057del | CA1023276 | VANGL1 | c.601del (p.Trp201GlyfsTer?) c.595del (p.Trp199GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115664057T>A | CA341763091 | VANGL1 | c.601T>A (p.Trp201Arg) c.595T>A (p.Trp199Arg) | |
| 1 | g.115664057T>C | CA341763092 | VANGL1 | c.601T>C (p.Trp201Arg) c.595T>C (p.Trp199Arg) | |
| 1 | g.115664057T>G | CA341763093 | VANGL1 | c.601T>G (p.Trp201Gly) c.595T>G (p.Trp199Gly) | |
| 1 | g.115664058G>A | CA341763094 | VANGL1 | c.602G>A (p.Trp201Ter) c.596G>A (p.Trp199Ter) | |
| 1 | g.115664058G>C | CA341763095 | VANGL1 | c.602G>C (p.Trp201Ser) c.596G>C (p.Trp199Ser) | |
| 1 | g.115664058G>T | CA341763096 | VANGL1 | c.602G>T (p.Trp201Leu) c.596G>T (p.Trp199Leu) | |
| 1 | g.115664059G>A | CA341763097 | VANGL1 | c.603G>A (p.Trp201Ter) c.597G>A (p.Trp199Ter) | |
| 1 | g.115664059G>C | CA341763098 | VANGL1 | c.603G>C (p.Trp201Cys) c.597G>C (p.Trp199Cys) | |
| 1 | g.115664059G>T | CA341763099 | VANGL1 | c.603G>T (p.Trp201Cys) c.597G>T (p.Trp199Cys) | |
| 1 | g.115664060C>A | CA341763100 | VANGL1 | c.604C>A (p.Leu202Ile) c.598C>A (p.Leu200Ile) | |
| 1 | g.115664060C>G | CA341763101 | VANGL1 | c.604C>G (p.Leu202Val) c.598C>G (p.Leu200Val) | |
| 1 | g.115664060C>T | CA341763102 | VANGL1 | c.604C>T (p.Leu202Phe) c.598C>T (p.Leu200Phe) | |
| 1 | g.115664061T>A | CA341763105 | VANGL1 | c.605T>A (p.Leu202His) c.599T>A (p.Leu200His) | |
| 1 | g.115664061T>C | CA341763104 | VANGL1 | c.605T>C (p.Leu202Pro) c.599T>C (p.Leu200Pro) | |
| 1 | g.115664061T>G | CA341763103 | VANGL1 | c.605T>G (p.Leu202Arg) c.599T>G (p.Leu200Arg) | |
| 1 | g.115664066dup | CA420178163 | VANGL1 | c.610dup (p.Tyr204LeufsTer?) c.604dup (p.Tyr202LeufsTer?) | gnomAD v4 COSMIC |
| 1 | g.115664066del | CA645533778 | VANGL1 | c.610del (p.Tyr204ThrfsTer?) c.604del (p.Tyr202ThrfsTer?) | COSMIC |
| 1 | g.115664062T>A | CA420178164 | VANGL1 | c.606T>A (p.Leu202=) c.600T>A (p.Leu200=) | |
| 1 | g.115664062T>C | CA420178165 | VANGL1 | c.606T>C (p.Leu202=) c.600T>C (p.Leu200=) | |
| 1 | g.115664062T>G | CA420178166 | VANGL1 | c.606T>G (p.Leu202=) c.600T>G (p.Leu200=) | |
| 1 | g.115664063T>A | CA341763108 | VANGL1 | c.607T>A (p.Phe203Ile) c.601T>A (p.Phe201Ile) | |
| 1 | g.115664063T>C | CA341763106 | VANGL1 | c.607T>C (p.Phe203Leu) c.601T>C (p.Phe201Leu) | |
| 1 | g.115664063T>G | CA341763107 | VANGL1 | c.607T>G (p.Phe203Val) c.601T>G (p.Phe201Val) | |
| 1 | g.115664064T>A | CA341763109 | VANGL1 | c.608T>A (p.Phe203Tyr) c.602T>A (p.Phe201Tyr) | |
| 1 | g.115664064T>C | CA341763110 | VANGL1 | c.608T>C (p.Phe203Ser) c.602T>C (p.Phe201Ser) | |
| 1 | g.115664064T>G | CA341763111 | VANGL1 | c.608T>G (p.Phe203Cys) c.602T>G (p.Phe201Cys) | |
| 1 | g.115664065T>A | CA341763112 | VANGL1 | c.609T>A (p.Phe203Leu) c.603T>A (p.Phe201Leu) | |
| 1 | g.115664065T>C | CA420178167 | VANGL1 | c.609T>C (p.Phe203=) c.603T>C (p.Phe201=) | |
| 1 | g.115664065T>G | CA341763113 | VANGL1 | c.609T>G (p.Phe203Leu) c.603T>G (p.Phe201Leu) | |
| 1 | g.115664066T>A | CA341763114 | VANGL1 | c.610T>A (p.Tyr204Asn) c.604T>A (p.Tyr202Asn) | |
| 1 | g.115664066T>C | CA341763115 | VANGL1 | c.610T>C (p.Tyr204His) c.604T>C (p.Tyr202His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664066T>G | CA341763116 | VANGL1 | c.610T>G (p.Tyr204Asp) c.604T>G (p.Tyr202Asp) | |
| 1 | g.115664066T= | CA1190697369 | VANGL1 | c.610T= (p.Tyr204=) c.604T= (p.Tyr202=) | |
| 1 | g.115664067A>C | CA341763117 | VANGL1 | c.611A>C (p.Tyr204Ser) c.605A>C (p.Tyr202Ser) | |
| 1 | g.115664067A>G | CA341763118 | VANGL1 | c.611A>G (p.Tyr204Cys) c.605A>G (p.Tyr202Cys) | |
| 1 | g.115664067A>T | CA341763119 | VANGL1 | c.611A>T (p.Tyr204Phe) c.605A>T (p.Tyr202Phe) | |
| 1 | g.115664068C>A | CA341763121 | VANGL1 | c.612C>A (p.Tyr204Ter) c.606C>A (p.Tyr202Ter) | |
| 1 | g.115664068C= | CA1148091214 | VANGL1 | c.612C= (p.Tyr204=) c.606C= (p.Tyr202=) | |
| 1 | g.115664068C>G | CA341763120 | VANGL1 | c.612C>G (p.Tyr204Ter) c.606C>G (p.Tyr202Ter) | |
| 1 | g.115664068C>T | CA1023277 | VANGL1 | c.612C>T (p.Tyr204=) c.606C>T (p.Tyr202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664069G>A | CA1023278 | VANGL1 | c.613G>A (p.Gly205Arg) c.607G>A (p.Gly203Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115664069G>C | CA341763122 | VANGL1 | c.613G>C (p.Gly205Arg) c.607G>C (p.Gly203Arg) | |
| 1 | g.115664069G= | CA1190697370 | VANGL1 | c.613G= (p.Gly205=) c.607G= (p.Gly203=) | |
| 1 | g.115664069G>T | CA341763123 | VANGL1 | c.613G>T (p.Gly205Trp) c.607G>T (p.Gly203Trp) | |
| 1 | g.115664070G>A | CA341763124 | VANGL1 | c.614G>A (p.Gly205Glu) c.608G>A (p.Gly203Glu) | dbSNP gnomAD v4 |
| 1 | g.115664070G>C | CA341763125 | VANGL1 | c.614G>C (p.Gly205Ala) c.608G>C (p.Gly203Ala) | |
| 1 | g.115664070G= | CA1190697371 | VANGL1 | c.614G= (p.Gly205=) c.608G= (p.Gly203=) | |
| 1 | g.115664070G>T | CA341763126 | VANGL1 | c.614G>T (p.Gly205Val) c.608G>T (p.Gly203Val) | |
| 1 | g.115664071G>A | CA420178168 | VANGL1 | c.615G>A (p.Gly205=) c.609G>A (p.Gly203=) | |
| 1 | g.115664071G>C | CA420178169 | VANGL1 | c.615G>C (p.Gly205=) c.609G>C (p.Gly203=) | |
| 1 | g.115664071G>T | CA420178170 | VANGL1 | c.615G>T (p.Gly205=) c.609G>T (p.Gly203=) | |
| 1 | g.115664072G>A | CA341763127 | VANGL1 | c.616G>A (p.Val206Ile) c.610G>A (p.Val204Ile) | gnomAD v4 |
| 1 | g.115664072G>C | CA341763128 | VANGL1 | c.616G>C (p.Val206Leu) c.610G>C (p.Val204Leu) | |
| 1 | g.115664072G>T | CA341763129 | VANGL1 | c.616G>T (p.Val206Phe) c.610G>T (p.Val204Phe) | gnomAD v4 |
| 1 | g.115664073T>A | CA341763130 | VANGL1 | c.617T>A (p.Val206Asp) c.611T>A (p.Val204Asp) | |
| 1 | g.115664073T>C | CA341763131 | VANGL1 | c.617T>C (p.Val206Ala) c.611T>C (p.Val204Ala) | |
| 1 | g.115664073T>G | CA341763132 | VANGL1 | c.617T>G (p.Val206Gly) c.611T>G (p.Val204Gly) | |
| 1 | g.115664074C>A | CA420178172 | VANGL1 | c.618C>A (p.Val206=) c.612C>A (p.Val204=) | gnomAD v4 |
| 1 | g.115664074C= | CA1148472860 | VANGL1 | c.618C= (p.Val206=) c.612C= (p.Val204=) | |
| 1 | g.115664074C>G | CA1023279 | VANGL1 | c.618C>G (p.Val206=) c.612C>G (p.Val204=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115664074C>T | CA420178171 | VANGL1 | c.618C>T (p.Val206=) c.612C>T (p.Val204=) | dbSNP COSMIC |
| 1 | g.115664075C>A | CA341763133 | VANGL1 | c.619C>A (p.Arg207Ser) c.613C>A (p.Arg205Ser) | |
| 1 | g.115664075C= | CA1190697372 | VANGL1 | c.619C= (p.Arg207=) c.613C= (p.Arg205=) | |
| 1 | g.115664075C>G | CA341763134 | VANGL1 | c.619C>G (p.Arg207Gly) c.613C>G (p.Arg205Gly) | |
| 1 | g.115664075C>T | CA1023280 | VANGL1 | c.619C>T (p.Arg207Cys) c.613C>T (p.Arg205Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |